A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv916n106



Internal ID22794744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132731714..132733714hg38UCSC Ensembl
chr12:133308300..133310300hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1139580, nsv1118512
SamplesKWS2, KWS1
Known GenesANKLE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv916n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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